Phenotype #0000337380

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00448166
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	MRT51
Inheritance	Familial, autosomal recessive
Phenotype details	see paper; ..., height 172cm (−0.8 SD), weight 71kg (+0.7 SD), OFC 54.5cm (−1.46 SD); moderate intellectual disability (IQ49)
Age/Examination	33y (33 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-02-22 16:11:47 +01:00 (CET)
Date last edited	N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.